Canonical Allele Identifier: CA148218719

Gene: PEX7

Linked Data

• dbSNP Id: rs949000822
• gnomAD v4: 6-136898145-C-A
• MyVariant Identifiers: chr6:g.137219283C>A (hg19) ; chr6:g.136898145C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898145C>A , CM000668.2:g.136898145C>A	GRCh38
NC_000006.11:g.137219283C>A , CM000668.1:g.137219283C>A	GRCh37
NC_000006.10:g.137260976C>A	NCBI36
NG_008462.1:g.80566C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.807C>A MANE Select	ENSP00000315680.3:p.Phe269Leu
ENST00000541292.6:c.*72C>A	ENSP00000441004.1:n.*72C>A
ENST00000678002.1:c.495C>A
ENST00000678557.1:c.693C>A	ENSP00000502962.1:p.Phe231Leu
ENST00000679286.1:c.687C>A	ENSP00000503168.1:p.Phe229Leu
ENST00000318471.4:c.807C>A	ENSP00000315680.3:p.Phe269Leu
NM_000288.3:c.807C>A	NP_000279.1:p.Phe269Leu
XM_005267019.3:c.693C>A	XP_005267076.1:p.Phe231Leu
XM_006715502.1:c.513C>A	XP_006715565.1:p.Phe171Leu
XM_011535900.1:c.530C>A	XP_011534202.1:p.Ser177Tyr
XM_005267019.4:c.693C>A	XP_005267076.1:p.Phe231Leu
XM_006715502.2:c.513C>A	XP_006715565.1:p.Phe171Leu
XM_017010934.2:c.530C>A	XP_016866423.1:p.Ser177Tyr
NM_000288.4:c.807C>A MANE Select	NP_000279.1:p.Phe269Leu